Sahoo Lulup Kumar, Swain Kali Prasanna, Mallick Ashok Kumar, Mohanty Geeta, Samanta Maheswar, Sahoo Srikanta Kumar
Senior Resident.
Asst. Professor.
J Assoc Physicians India. 2017 Apr;65(4):93-94.
Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient. Neuroimaging showed bilateral caudate atrophy and nerve conduction study showed motor axonal neuropathy. This case report describes the typical features and investigations to diagnose this rare disorder which is usually underdiagnosed.
神经棘红细胞增多症是一组异质性疾病，可导致进行性神经退行性变，主要累及基底神经节，并伴有红细胞棘状突起。我们报告一例具有典型舞蹈病样棘红细胞增多症表型的神经棘红细胞增多症病例。一名40岁男性表现出舞蹈症特征，伴有口面部肌张力障碍，导致进食和言语困难。存在咬唇和咬舌形式的自残行为。我们的患者外周血涂片检查发现了棘状红细胞。神经影像学显示双侧尾状核萎缩，神经传导研究显示运动轴索性神经病。本病例报告描述了诊断这种罕见疾病的典型特征和检查方法，该疾病通常诊断不足。
